Sepiapterin reductase deficiency: Report of 5 new cases.
Eur J Paediatr Neurol
; 21(3): 583-586, 2017 May.
Article
in En
| MEDLINE
| ID: mdl-28189489
ABSTRACT
BACKGROUND:
Sepiapterin reductase deficiency is a rare, under-recognized, autosomal recessively inherited disorder of neurotransmitter metabolism. CASE REPORT Five new patients from 3 unrelated Saudi consanguineous families are reported. Symptoms began at 6 months, with delay to diagnosis averaging 8 years. All 5 patients presented with severe symptoms including axial hypotonia, dystonia, and cognitive impairment, associated with hyper-reflexia (4 patients), spasticity (4 patients), bulbar dysfunction (4 patients), and oculogyric crisis (2 patients) with diurnal fluctuation and sleep benefit. Cerebrospinal fluid neurotransmitters analysis showed a typical pattern with increased sepiapterin and increased 7,8-dihydrobiopterin. Analysis of the SPR gene identified 3 novel mutations c.1A > G, c.370T > C, and c.527C > T. Patient one, with early diagnosis, is currently developing within the normal range. The 4 other patients showed significant improvement in their motor function, but only mild improvement in their cognitive dysfunction.CONCLUSION:
Our cases illustrate the difficulties in the diagnosis of sepiapterin reductase deficiency in infancy, and the importance of early recognition and management.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Psychomotor Disorders
/
Alcohol Oxidoreductases
/
Dystonia
/
Metabolism, Inborn Errors
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limits:
Adolescent
/
Child
/
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
Eur J Paediatr Neurol
Journal subject:
NEUROLOGIA
/
PEDIATRIA
Year:
2017
Document type:
Article
Affiliation country:
Saudi Arabia